TTR Mutations

Sequence Mutations of Human Transthyretin
(reported through 8/2/2001)

Mutation DNA Base Change AA Mass Shift, Da Phenotype Geographic Focus (Ethnic Group) Reference
Gly6Ser GGT –> AGT +30 non-amyloid n.a. 1991 Fitch et al. References
Cys10Arg TGT –> CGT +53 AN, E, H, PN USA (PA) 1992 Uemichi et al. References
Leu12Pro CTG –> CCG -16 L, LM UK 1996 Booth et al. References
Asp18Glu GAT –> GAA/G +14 PN South America 1996 Booth et al. References
Asp18Gly GAT –> GGT -58 LM Hungary 1996 Vidal et al. References
Val20Ile GTC –> ATC +14 CTS, H Germany, USA 1996 Jenne et al. References
Ser23Asn AGT –> AAT +27 E, H, PN Portugal, USA 1999 Theberge et al. References
Pro24Ser CCT –> TCT -10 CTS, H, PN USA 1995 Uemichi et al. References
Ala25Ser GCC –> TCC +16 H, PN 2001 Hamidi et al. References
Val28Met GTG –> ATG +32 PN Portugal 2000 Carvelho et al. References
Val30Ala GTG –> GCG  -28 AN, H USA (Germany) 1992 Jones et al. References
Val30Gly GTG –> GGG -42 E, LM USA 1997 Petersen et al. References
Val30Leu GTG –> CTG +14 AN, H, K, PN Japan, USA 1992 Nakazato et al. References
Val30Met GTG –> ATG +32 AN, E, LM, PN Argentina, Brazil, China, Finland, France, Germany, Greece, Italy, Japan, Portugal, Sweden,  Turkey, USA 1983 Dwulet et al. References
Phe33Cys TTC –> TGC -44 CTS, E, K,  H USA 2001 Lim et al. References
Phe33Ile TTC –> ATC -34 E, PN Israel 1984 Nakazato et al. References
Phe33Leu TTC –> CTC -34 PN USA 1991 Harding et al. References
Phe33Val TTC –> GTC -48 PN China, UK 1996 Booth et al. References
Arg34Thr AGA –> ACA -55 H, PN Italy 1996 Patrosso et al. References
Lys35Asn AAG –> AAC/T -14 AN, H, PN France 1995 Reilly et al. References
Ala36Pro GCT –> CCT +26 CTS, E, PN Greece, Italy, 
Jewish, USA 		1991 Jones et al. References
Asp38Ala GAT –> GCT -44 AN, H, PN Japan 1998 Shimizu et al. References
Trp41Leu TGG –> TTG -73 E USA (Russia) 2001 Lim et al. References
Glu42Asp GAG –> GAC/T -14 H France 1998 Dupuy et al. References
Glu42Gly GAG –> GGG -72 AN, H, PN Japan, Russia, USA 1990 Ueno et al. References
Phe44Ser TTT –> TCT -60 AN, H, PN USA 1998 Klein et al. References
Ala45Asp GCC –> GAC +44 H, PN Ireland, USA 1993 Jacobson et al. References
Ala45Ser GCC –> UCC +16 H Sweden 1999 Janunger et al. References
Ala45Thr GCC –> ACC +30 H Ireland, Italy, USA 1992 Saraiva et al. References
Gly47Ala GGG –> GCG +14 AN, H, PN Germany, Italy 1993 Ferlini et al. References
Gly47Arg GGG –> CGG +99 AN, PN Japan 1992 Murakami et al. References
Gly47Glu GGG –> GAG +72 1999 Altland et al. References
Gly47Val GGG –> GTG +42 AN, CTS, H, PN Sri Lanka 1993 Booth et al. References
Thr49Ala ACC –> GCC -30 CTS, H, PN France, Italy 1992 Almeida et al. References
Thr49Ile ACC –> ATC +12 H, PN Japan 1999 Nakamura et al. References
Ser50Arg AGT –> AGG? +69 AN, H, PN France/Italy, Japan 1990 Ueno et al. References
Ser50Ile AGT –> ATT +26 AN, H, PN Japan 1992 Saeki et al. References
Glu51Gly GAG –> GGG -72 H USA 1999 Jacobson et al. References
Ser52Pro TCT –> CCT +10 AN, H, K, PN England 1993 Booth et al. References
Gly53Glu GGA –> GAA +72 LM,N France 1999 Camou et al. References
Glu54Gln GAG –> CAG -1 References
Glu54Gly GAG –> GGG -72 AN, E, PN England 1995 Reilly et al. References
Glu54Lys GAG –> AAG -1 PN 1999 Togashi et al. References
Leu55Arg CTG –> CGG +43 1999 Altland et al. References
Leu55Pro CTG –> CCG -16 AN, E, H, PN Taiwan, USA 
(Dutch, German) 		1992 Jacobson et al. References
Leu58Arg CTC –> CGC +43 AN, CTS, E, H Japan 1991 Saeki et al. References
Leu58His CTC –> CAC +24 CTS, H Germany, USA (MD) 1989 Nichols et al. References
Thr59Lys ACA –> AAA +27 AN, H, PN Italy, USA (Asian) 1995 Booth et al. References
Thr60Ala ACT –> GCT -30 CTS, H, PN  Australia, Germany, Ireland, UK, USA 1986 Wallace et al. References
Glu61Lys GAG –> AAG -1 PN Japan 1993 Shiomi et al. References
Phe64Leu TTT –> CTT -34 CTS, H, PN Italy, USA 1991 Li et al. References
Phe64Ser TTT –> TCT -60 E, LM, PN Canada, England 1999 Connors et al. References
Ile68Leu ATA –> TTA 0 H Germany, USA 1991 Almeida et al. References
Tyr69His TAC –> CAC -26 E USA 1994 Zeldenrust et al. References
Lys70Asn AAA –> AAC -14 CTS, E, PN Germany, USA 1992 Izumoto et al. References
Val71Ala GTC –> GCG -28 CTS, E, PN France, Spain 1993 Almeida et al. References
Ile73Val ATA –> GTA -14 AN, PN Bangladesh 1998 Booth et al. References
Asp74His GAC –> CAC +22 non-amyloid? Germany 1994 Uemichi et al. References
Ser77Phe TCT –> TTT +60 AN, PN France 1998 Plante-Bordeneuve et al. References
Ser77Tyr TCT –> TAT +76 H, K, PN France, Germany, USA (IL,TX)  1986 Wallace et al. References
Ile84Asn ATC –> AAC +1 CTS, E, H USA 1992 Skinner et al. References
Ile84Ser ATC –> AGC -26 CTS, E, H, LM Hungary, Swiss, USA (IN) 1984 Dwulet et al. References
Ile84Thr ATC –> ACC -12 H, PN Germany, UK 1998 Stangou et al. References
Glu89Gln GAG –> CAG -1 CTS, H, PN Italy 1992 Aklmeida et al. References
Glu89Lys GAG –> AAG -1 AN, H, PN USA 1989 Skare et al. References
His90Asn CAT –> AAT -23 non-amyloid  Germany, Portugal 1991 Saraiva et al. References
Ala91Ser GCA –> TCA +16 AN, CTS, H, PN France 1989 Skare et al. References
Gln92Lys GAG –> AAG 0 C 2001 Saito et al. References
Ala97Gly GCC –> GGC -14 H, PN Japan 1994 Yasuda et al. References
Ala97Ser GCC –> TCC +16 China, Taiwan 1989 Skare et al. References
Gly101Ser GGC –> AGC +30 non-amyloid Japan 1998 Kishikawa et al. References
Pro102Arg CCC –> CGC +59 non-amyloid Germany 1991 Almeida et al. References
Arg104Cys CGC –> TGC -53 non-amyloid, N 1995 Torres et al. References
Arg104His CGC –> CAC -19 non-amyloid Japan 1999 Matasunaga et al. References
Ile107Val ATT –> GTT -14 CTS, H, PN Germany, USA 1994 Jacobson et al. References
Ala109Ser GCC –> TCC +16 Japan 1997 Date et al. References
Ala109Thr GCC –> ACC +30 non-amyloid Portugal 1990 Moses et al. References
Ala109Val GCC –> GTC +28 non-amyloid 1993 Izumoto et al. References
Leu111Met CTG –> ATG +18 CTS, H Denmark 1988 Nordlie et al. References
Ser112Ile AGC –> ATC +26 H, PN Italy 1993 De Lucia et al. References
Tyr114Cys TAC –> TGC -60 AN, E, H, LM, PN Japan 1990 Ueno et al. References
Tyr114His TAC –> CAC -26 CTS Japan 1994 Murakami et al. References
Tyr116Ser TAT –> TCT -76 AN, PN France 1998 Mirashi et al. References
**Thr118Met ACG –> ATG +30 1997 Nelis et al. References
Thr119Met ACG –> ATG +30 non-amyloid Portugal, USA 1991 Harrison et al. References
Ala120Ser GCT –> TCT +16 H Caribbean 1999 Gillmore et al. References
Loss of Val122 GTC loss  -99 H, PN USA (Ecuador/ Spain) 1996 Uemichi et al. References
Val122Ala GTC –> GCC -28 E, H, PN USA 1999 Theberge et al. References
Val122Ile GTC –> ATC +14 H Africa, Portugal, USA  1989 Gorevic et al. References
Pro125Ser CCC –> TCC -10 non-amyloid Italy 1996 Ferlini et al. References
Met13lle* ATG –> ATC -18 non-amyloid Germany 1999 Altland et al. References
Asp18Asn GAT –> AAT -1 H USA 2001 Connors et al. References
Ala25Ser GCC –> TCC +16 H, PN USA 2002 Yazaki et al. References
Ala25Thr GCC –> ACC +30 CNS, PN JAPAN 2003 Sekijima et al. References
Val28Met GTG –> ATG +32 AN, PN PORTUGAL 2000 Carvelho et al. References
Phe33Cys TTC –> TGC -44 CTS, E, K, H USA 2001 Lim et al. References
Trp41Leu TGG –> TTG -73 E USA (Russian) 2001 Lim et al. References
Thr49Pro ACC –> CCC -4 H USA 2002 Lim et al. References
Leu55Gln CTG –> CAG +15 AN, E, PN USA (Spanish) 2002 Yazaki et al. References
His56Arg CAT –> AAT +19 H USA 1999 Jacobsan et al. References
Tyr69Ile TAC –> ATC -50 CTS, H JAPAN 2003 Takei et al. References
Abbreviation Key: Da = 1 mass unit (u); AN = autonomic neuropathy; CTS = carpal tunnel syndrome; E = eye; H = heart; K = kidney; L = liver; LM = leptomeningeal; N = neuropathy; PN = polyneuropathy